Canonical Allele Identifier: CA1823684453
Gene: FAM135B HGNC NCBI

Linked Data

dbSNP Id: rs1587564308
gnomAD v3: 8-138491912-G-T
gnomAD v4: 8-138491912-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.138491912G>T , CM000670.2:g.138491912G>T GRCh38
NC_000008.10:g.139504155G>T , CM000670.1:g.139504155G>T GRCh37
NC_000008.9:g.139573337G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000395297.6:c.-20+4759C>A MANE Select ENSP00000378710.1:n.-20+4759C>A
ENST00000276737.10:c.-20+4759C>A ENSP00000276737.6:n.-20+4759C>A
ENST00000395297.5:c.-20+4759C>A ENSP00000378710.1:n.-20+4759C>A
NM_015912.3:c.-20+4759C>A NP_056996.2:n.-20+4759C>A
XM_011517061.1:c.-165+4759C>A XP_011515363.1:n.-165+4759C>A
XM_011517062.1:c.-20+4759C>A XP_011515364.1:n.-20+4759C>A
NM_001362965.1:c.-20+5715C>A NP_001349894.1:n.-20+5715C>A
XM_011517061.2:c.-165+4759C>A XP_011515363.1:n.-165+4759C>A
NM_015912.4:c.-20+4759C>A MANE Select NP_056996.2:n.-20+4759C>A
NM_001362965.2:c.-20+5715C>A NP_001349894.1:n.-20+5715C>A
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